ITGAV

integrin subunit alpha V
OMIM: 193210, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ITGAV in COVID-19 research


Level 2: Viral research
Version 1.146

review Unknown
Sources
  • Expert Review Green
  • OMIM
  • Expert list
Amber ITGAV in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • syndromic disease, MONDO:0002254
Green ITGAV in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • syndromic disease, MONDO:0002254
Amber ITGAV in Intellectual disability


Level 2: Developmental disorders
Version 9.279
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • syndromic disease, MONDO:0002254